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Warburg micro syndrome 4
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.
Uniprot Description A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110719
OMIM:615663
UMLS:C3810265
MONDO:0014296
High level summary of knowledge for a disease, including descriptions and datasource references.